Cargando…

Whole exome sequencing reveals a biallelic frameshift mutation in GRXCR2 in hearing impairment in Cameroon

BACKGROUND: Hearing impairment (HI) genes are poorly studied in African populations. METHODS: We used whole exome sequencing (WES) to investigate pathogenic and likely pathogenic (PLP) variants in 10 individuals with HI, from four multiplex families from Cameroon, two of which were previously unreso...

Descripción completa

Detalles Bibliográficos
Autores principales: Wonkam, Ambroise, Lebeko, Kamogelo, Mowla, Shaheen, Noubiap, Jean Jacques, Chong, Mike, Pare, Guillaume
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8104159/
https://www.ncbi.nlm.nih.gov/pubmed/33528103
http://dx.doi.org/10.1002/mgg3.1609